Acute onset of infantile spinal muscular atrophy.

Two patients with acute generalized weakness and areflexia are presented. The electrophysiologic studies in both revealed evidence of decreased conduction velocity and mixed axonal and demyelinating neuropathy, suggestive of the diagnosis of Guillain-Barré syndrome. The young ages of the patients and their failure to respond to immunoglobulin therapy were the major clues to the final diagnosis of spinal muscular atrophy type I. Blood for DNA study revealed homozygous deletion mutation in exons 7 and 8 of the survival motor neuron gene. This diagnosis should be considered in every child under 1 year of age who presents with acute weakness because Guillain-Barré syndrome in this age group is rare.

Acute necrotizing encephalopathy presenting as a basal ganglia syndrome.

Acute necrotizing encephalopathy is a relatively new disease. The characteristic clinical findings are of febrile illness followed by rapid deterioration in mental status and seizures. The hallmark of the disease is multifocal bilateral symmetric lesions affecting the thalamus, hypothalamus, brainstem tegmentum, cerebral white matter, and cerebellum. The etiology is unknown, but immune-mediated mechanism was suggested. We present a 12-year-old previously healthy girl who developed increased sleepiness progressing to stupor and coma. Magnetic resonance imaging (MRI) of the brain showed the characteristic findings previously described in acute necrotizing encephalopathy. Her mental status improved dramatically with steroid treatment, and the MRI findings resolved completely within 6 months. Following the acute illness, she developed a complex neuropsychiatric disorder consistent with basal ganglia syndrome.

Biphasic course of infant botulism.

The syndrome of infant botulism, characterized by constipation, poor feeding, hypotonia, poor head control, and bulbar involvement, is typically a monophasic disease. We describe a 7-month-old infant with a recurrence of illness 13 days after resolution of the presenting signs. The source of infection was unknown and the only potential risk factors were exclusive breastfeeding and decreased bowel movements, which by themselves cannot explain the recurrence. Although treatment with botulism immunoglobulin is now suggested for the acute phase of infantile botulism, its use for recurrence is controversial.

Neurologic manifestations of Mycoplasma pneumoniae infections: diverse spectrum of diseases. A report of six cases and review of the literature.

Mycoplasma pneumoniae is a common cause of upper and lower respiratory tract infections of varying severity. It is also responsible for producing a wide spectrum of nonpulmonary manifestations including neurologic, hepatic, cardiac, and hematologic diseases. The neurologic manifestations are reported to be the most common nonpulmonary manifestations. We describe six patients demonstrating the protean neurologic manifestations of Mycoplasma pneumoniae infections. Four patients presented with the central nervous system manifestations of pyramidal and extrapyramidal tract dysfunction, seizures, cognitive abnormalities, and cerebellar dysfunction. Two patients presented with transverse myelitis. The outcome of this condition ranges from normal to severe residual deficits. Increased awareness of this disease entity may facilitate early diagnosis and thereby expedite starting appropriate therapy that may modify the outcome.

Coma as an acute presentation of adrenoleukodystrophy.

X-linked adrenoleukodystrophy is a metabolic disorder with broad clinical variations. A 4-year-old male admitted to the hospital with fever, hypotension, and coma as the presenting signs of adrenoleukodystrophy is reported. The initial presentation followed by rapidly developing disseminated intravascular coagulopathy and multiorgan failure suggested an initial diagnosis of septic shock. However, bronze skin pigmentation and a cranial computed tomography scan demonstrating posterior demyelination consistent with adrenoleukodystrophy led to the final diagnosis. The diagnosis was confirmed by the findings of elevated very-long-chain fatty acid levels and an elevated C24/C16 ratio in plasma and fibroblast cultures. Atypical presentations of the disease require a high index of suspicion to initiate treatment before the appearance of irreversible sequelae.

The value of early postictal EEG in children with complex febrile seizures.

PURPOSE: To assess the usefulness of an early postictal EEG in neurologically normal children with complex febrile seizures. METHODS: We conducted a retrospective chart review of all neurologically normal children who were hospitalized over a period of 2.5 years after complex febrile seizures, and had an EEG up to 1 week after the seizure. RESULTS: Thirty-three patients (mean age, 17.8 months) qualified for inclusion into the study. Twenty-four patients were qualified as complex cases based on one factor (prolonged in 9, repetitive in 13, and focal in 2). Nine other patients had two complex factors: in six patients, the seizures were long and repetitive; in two patients, the seizures were focal and repetitive; and in one patient, the seizures were long, focal, and repetitive. Thirteen (39%) patients experienced prior febrile seizures. All 33 patients had a normal postictal sleep EEG. Our results indicate with a 95% probability that the true rate of abnormalities in an early postictal EEG performed on otherwise normal children with complex febrile seizures is 8.6% or less. CONCLUSIONS: The yield of abnormalities of an early postictal EEG in this population is low and similar to the reported rate of abnormalities in children with simple febrile seizures. The routine practice of obtaining an early EEG in neurologically normal children with complex febrile seizures is not justified.

Risk of excessive weight gain in epileptic children treated with valproate.

We sought to identify factors associated with excessive weight gain in children treated with valproate, excluding patients fed by gastrostomy or treated with medications known to affect appetite (eg, stimulants). Weight and height were recorded before treatment and at the time of follow-up; a measure of adiposity, body mass index, was computed and expressed in kg/m2, and weight and height for age were converted to Z-score. Putative risk factors included sex, age at start of treatment, monotherapy at start of treatment, duration of follow-up, mental retardation, seizure type (generalized or partial), etiology (idiopathic or cryptogenic versus remote symptomatic), and dose of valproate. Fifty-five children (30 girls, 25 boys), ranging in age at the start of therapy from 1.8 to 16.9 years were followed for 8.6 to 33.8 months. Forty-three patients had primarily generalized seizures, 34 had idiopathic or cryptogenic epilepsy (including 30 with generalized idiopathic epilepsy), and 18 had mental retardation. Valproate was the first antiepileptic drug for 21 patients, and 43 were on monotherapy at the time of follow-up. Height Z-score decreased significantly in girls but was stable in boys. There was a significant increase in body mass index and in weight Z-score. Body mass index was greater than the 90th percentile for age in 14 patients at the start of treatment and in 20 patients at follow-up. Decrease in height Z-score was significantly correlated with female sex and duration of follow-up. Changes in weight Z-score and body mass index were significantly correlated with initial weight Z-score and initial body mass index, respectively, but not with age at start of therapy, duration of follow-up, sex, seizure type, etiology, dose of valproate, or monotherapy.

Cyclic vertigo with predictable recurrence.

The long-term follow-up of six children with "cyclic vertigo," that has recurred for years, at strikingly predictable intervals, is presented. Vertigo and photophobia, lasting several hours, start early in the morning, daily for several consecutive days, and recur at predictable intervals without evidence of long-term neurological deficits. The interval between events increases with age. Diagnostic criteria are suggested. Cyclic vertigo may be a migraine equivalent caused by periodic derangement of the mechanisms controlling the generation of circadian rhythms.

Subdural empyema in 12-year-old girl: the value of magnetic resonance imaging.

A 12-year-old girl presented with an acute history of fever, headaches, and focal neurological deficits. An initial computed tomography (CT) scan of the head was nondiagnostic whereas plain and gadolinium-enhanced magnetic resonance imaging (MRI) detected an extensive subdural empyema. The report emphasizes the hazard of relying on a nondiagnostic CT scan in a septic patient with deteriorating neurological function, and the need of MRI with contrast enhancement if subdural empyema is a serious clinical concern.

The value of brain imaging in children with headaches.

OBJECTIVE: To determine the value of performing computed tomography (CT) on magnetic resonance imaging (MRI) studies in children with chronic headaches. BACKGROUND: Headache is a common complaint in children. With the proliferation of brain imaging centers and the increasing patient demand for CT or MRI studies, brain imaging has become widely used to evaluate headaches. METHODS: A retrospective chart review was conducted of all children referred to the pediatric neurology clinic for evaluation of headaches over a 2-year period. Charts were reviewed for headache characteristics, clinical indications for performing CT and MRI studies, and imaging results. Particular attention was paid to evidence of brain tumors, vascular anomalies, or hydrocephalus. RESULTS: A total of 133 records were studied. Subjects ranged in age from 3 to 18 years. Most patients were diagnosed as having either vascular migrainous headaches (52%) or chronic tension headaches (21%). Other headache diagnoses were mixed tension-migraine, psychogenic, and post-traumatic. Headaches were unclassified in 25 patients (19%). Seventy-eight patients (59%) had brain imaging: 45 had MRI, 27 had CT, and 6 patients had both. In most cases, brain imaging studies were performed in patients with atypical headache pattern, presence of neurologic abnormalities during the headache, general symptoms (ie, weight loss or fatigue), or because of parents' or doctors' concerns about brain tumors. Cerebral abnormalities were found on brain imaging in four patients, but none indicated the presence of a treatable disease and all were deemed unrelated to the presenting complaint. Our findings of no relevant abnormalities in a series of 78 brain imaging studies indicate that the maximal rate at which such abnormalities might appear in this population is 3.8%. CONCLUSIONS: These results indicate that brain imaging studies have very limited value in evaluating headaches in pediatric patients without clinical evidence of an underlying structural lesion.

Prognosis and treatment of seizures in children with acute lymphoblastic leukemia.

We reviewed the records of 127 consecutive pediatric patients with acute lymphoblastic leukemia (ALL) to determine the incidence, timing, etiologies, and recurrence rate of seizures in this population. Patients with ALL and seizures were identified retrospectively by review of the records of all pediatric ALL patients who were diagnosed and treated during the years 1983 through March 1993 in a large tertiary-care hospital. Seventeen patients (13%) developed one or more seizures. In 16 patients, seizures occurred during antileukemic treatment, and in almost all of them seizures were related to intrathecal methotrexate (IT MTX) or subcutaneous L-asparaginase treatment. One patient who developed a seizure while not receiving chemotherapy had a history of cerebral infarctions. In 8 patients, (47%), the initial seizure episode was associated with a cerebral lesion. One or more seizures recurred in 6 patients. Four of these patients had an isolated recurrence, in 3 patients < or = 3 months and in 1 patient < or = 6 months after the initial event. Two patients (12%) with static encephalopathy and neurological deficits developed a chronic seizure disorder. There is a significant risk of acute symptomatic seizures in pediatric ALL patients. Most seizures in these patients occur during the acute treatment phase and are most frequently related to side effects of chemotherapy. The long-term recurrence risk is low; recurrence occurs most often in patients with evidence of cerebral structural lesions and neurological deficits. Long-term antiepileptic drug (AED) therapy should be restricted to such patients.

Dizziness in children.

The differential diagnosis of dizziness in children is extensive. It requires a careful evaluation of the patient's complaint and a systematic review of systems. Because there are endless etiologic possibilities, an algorithmic approach, taking into account the patient's complaint, age, and clinical laboratory findings, may help the clinician reach an accurate diagnosis. Ultimately, the successful treatment of dizziness depends on the physician's ability to establish the correct etiologic diagnosis.

New subform of the late infantile form of neuronal ceroid lipofuscinosis.

Clinicopathological studies of a series of nine children with a new subform of Jansky-Bielschowsky disease or late infantile neuronal ceroid lipofuscinosis (LINCL) is presented. The onset of this subform is between 2.5-3.5 years of age with initial neurological symptoms of abnormal motor skills caused by cerebellar and extrapyramidal signs. Soon after dementia, myoclonic seizures are followed. Visual impairment is more clearly seen after the age of 5 or 6 years. The ultrastructural studies of the skin and/or buffy coat showed abundant lysosomal storage of curvilinear profiles, rarely intermixed with fingerprint profiles. The MRI of the head performed in seven cases, showed initially enlargement of the ventricles that is secondary to basal ganglia atrophy and presence of cerebellar and cerebral atrophy. In 4 of 7 cases (Cases 1, 5, 6, 8) abnormalities in the deep white matter showing increased signals of T2-weighted imaging in the periventricular areas of the fronto-parietal region, internal capsule, tracks of the brainstem, and white matter of cerebellum were seen. These abnormalities were also observed by post-mortem neuropathological studies in three cases (nos. 7-9). The MRI in Cases 7 and 9 was not performed. The electrophysiological abnormalities (EEG, ERG, VER) are similar as described in the classical LINCL. Neuropathological studies done in 3 of 9 cases showed generalized brain atrophy and unique type of neuronal cytoplasmic inclusion body in the basal ganglia, brainstem, dentate nuclei, and rarely, cerebral cortex. These large, round neuronal cytoplasmic inclusions were pink in hematoxylin (HE), violet in cresyl violet, and dark blue with Klüver-Barrera method.(ABSTRACT TRUNCATED AT 250 WORDS)

MRI in neonatal dural sinus thrombosis.

Dural sinus thrombosis in the newborn period is a rare but underrecognized condition which may cause seizures, macrocephaly, lethargy, and respiratory depression. A 10-day-old term infant with no pre- or perinatal risk factors for thrombosis presented with seizures and was found to have dural sinus thrombosis on computed tomography and magnetic resonance imaging (MRI). One week later, MRI revealed partial resolution and 3 weeks later disclosed a complete resolution of the thrombosis. Clinicians should consider the diagnosis of neonatal dural sinus thrombosis in infants presenting with seizures and/or increased intracranial pressure even in the absence of risk factors or when the cranial computed tomography is normal. MRI is the most sensitive diagnostic tool to establish the diagnosis and permit a noninvasive follow-up, contributing to our understanding of the natural history, associated pathology, and prognosis of this condition.

Prenatal diagnosis of intracranial teratoma. Prolonged survival after resection of a malignant teratoma diagnosed prenatally by ultrasound: a case report and literature review.

We are reporting a case of an infant with an intracranial malignant teratoma which was diagnosed prenatally by ultrasound at 37 weeks of gestational age. After a cesarean delivery, the resection of the tumor was performed at 24 h of age. This infant is currently the oldest reported survivor that carries this prenatal diagnosis. He is also the first reported infant with surgical intervention for an intracranial malignant teratoma diagnosed prenatally.

Duchenne muscular dystrophy in a girl identified by dystrophin deficiency.

We report an isolated case of a girl aged three years six months with Duchenne muscular dystrophy. Analysis of the patient's DNA with a probe covering the DNA gene revealed no deletion. Dystrophin, studied in biopsied muscle from the patient, using antidystrophin antibody in combination with immunofluorescence, was nearly completely absent. In this sporadic case of female muscular dystrophy, the identification of dystrophin-deficient muscle fibers made it possible to establish an accurate diagnosis of DMD affected female.

Kearns-Sayre syndrome presenting as renal tubular acidosis.

Renal tubular acidosis and tetany were the 1st manifestations of Kearns-Sayre syndrome in a 5-year-old child. Subsequently, he developed progressive external ophthalmoplegia, ptosis, retinopathy, heart block, and endocrinopathy. There was a 7.5-kb deletion of mitochondrial DNA documented in muscle, kidney, skin fibroblasts, and leukocytes, providing evidence for a multisystem mitochondrial cytopathy.

Use of demand pacemaker in children with Guillain-Barré syndrome and cardiac arrhythmias.

We report 2 patients with Guillain-Barré syndrome who exhibited autonomic dysfunction, including lability of blood pressure and heart rate, frequent episodes of profound bradycardia, and occasional asystole. Both patients required insertion of a temporary venous pacemaker which was activated a few times during the following days. The potential need for ventilatory support in patients with Guillain-Barré syndrome is well known; however, death in these patients due to acute cardiovascular failure during autonomic dysfunction continues to occur. The patients' courses emphasize the significance of cardiac monitoring and the potential use of cardiac pacing in Guillain-Barré syndrome patients who exhibit autonomic dysfunction.